Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908668
rs121908668
5 0.882 0.240 11 68357673 missense variant G/T snv 0.010 1.000 1 2015 2015
dbSNP: rs312009
rs312009
2 0.925 0.080 11 68309770 upstream gene variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs3736228
rs3736228
13 0.752 0.400 11 68433827 missense variant C/T snv 0.13 0.11 0.010 1.000 1 2008 2008
dbSNP: rs4988321
rs4988321
4 0.851 0.160 11 68406721 missense variant G/A;C snv 3.8E-02 0.010 1.000 1 2019 2019